| Revista: | Revista médica de Chile |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000449350 |
| ISSN: | 0034-9887 |
| Autores: | Sánchez, Andrea1 Bustos, Paulina1 Honorato, Paula1 Sáez, Katia2 Elim Jannes, Cinthia3 Barriga, Natalia1 Ibieta, Guillermo4 Pérez, Luis4 Alonso, Rodrigo5 Radojkovic, Claudia1 Asenjo, Sylvia5 |
| Instituciones: | 1Universidad de Concepción, Facultad de Farmacia, Concepción. Chile 2Universidad de Concepción, Facultad de Ciencias Físicas y Matemáticas, Concepción. Chile 3Universidade de Sao Paulo, Faculdade de Medicina, Sao Paulo. Brasil 4Hospital Regional Guillermo Grant Benavente, Unidad de Hemodinamia, Concepción. Chile 5Centro Avanzado de Medicina Metabólica y Nutrición, Santiago de Chile. Chile |
| Año: | 2021 |
| Volumen: | 149 |
| Número: | 9 |
| Paginación: | 1267-1274 |
| País: | Chile |
| Idioma: | Español |
| Tipo de documento: | Artículo |
| Enfoque: | Analítico, descriptivo |
| Resumen en inglés | Familial hypercholesterolemia (FH) is commonly associated with mutations in-LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9). Aim: To identify genetic variants associated with FH in a population of children and adolescents with hypercholesterolemia or a family history of-demonstrated early CVD. Material and Methods: Clinical and biochemical parameters were evaluated, and nine genes related to FH were sequenced namely LDLR, APOB, PCSK9, LDLRAP1, LIPA, APOE, ABCG5, ABCG8 and STAP1, in 55 children and adolescents aged 1 to 18 years old, from non-consanguineous families. Results: Mutations associated with FH were found in 17 children and adolescents, corresponding to p.Asp47Asn, duplication of exons 13-15 and p.Ser326Cys of the LDLR gene; p.Glu204* and Ile268Met of the APOE gene. Thirteen patients were heterozygous, two homozygous, two compound heterozygous, and one double heterozygous. Conclusions: Children and adolescents carrying mutations associated with FH were found by selective screening, which constitutes the first stage in the identification of genetic variants in our country |
| Disciplinas: | Medicina |
| Palabras clave: | Metabolismo y nutrición, Genética, Hipercolesterolemia, Niños, Apolipoproteína E, Hiperlipoproteinemia tipo II, Mutaciones génicas |
| Keyword: | Metabolism and nutrition, Genetics, Hypercholesterolemia, Children, Apolipoprotein E, Hyperlipoproteinemic type II, Gene mutations |
| Texto completo: | Texto completo (Ver HTML) Texto completo (Ver PDF) |
